A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT)

Luca, Alessandro De; Morella, Annunziata; Consoli, Federica; Fanelli, Sergio; Thibert, Julie R.; Statt, Sarah; Latham, Gary J.; Squitieri, Ferdinando

doi:10.3390/ijms22041689

Cited by 12 publications

(10 citation statements)

References 36 publications

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“…A specific molecular genetic test for HD children to detect mutations with high CAG repeat number was performed at CSS-Mendel Institute in Rome, branch of IRCCS Casa Sollievo della Sofferenza Research Hospital [28].…”

Section: Methodsmentioning

confidence: 99%

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

Graziola

Maffi

Grasso

et al. 2022

JPM

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The “Spazio Huntington—A Place for Children” program was launched in 2019. The aim was to contact at risk kids within Huntington disease (HD) families, to provide counseling to their parents and to start a prospective follow-up of kids suspicious to manifest pediatric HD (PHD). We met 25 at risk kids in two years, four of whom with PHD and highly expanded (HE) mutations beyond 80 CAG repeats. We rated motor, neuropsychological and behavioral changes in all PHD kids by the Unified HD Rating Scale (UHDRS)-total motor score (TMS) and additional measures of (1) cognitive level (Leiter International Performance Scale), (2) adaptive functioning (Adaptive Behavior Assessment Systems), (3) receptive language (Peabody Picture Vocabulary Test) and (4) behavioral abnormalities (Child Behavior Check List and Children’s Yale–Brown Obsessive Compulsive Scale). All PHD kids showed a severe progression of neurological and psychiatric manifestations including motor, cognitive and behavioral changes. The magnetic resonance imaging contributed to confirm the suspicious clinical observation by highlighting very initial striatum abnormalities in PHD. Spazio Huntington is a program to prospectively study PHD, the most atypical face of HD, and may represent the basis to recruit PHD patients in future clinical trials.

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Section: Methodsmentioning

confidence: 99%

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

Graziola

Maffi

Grasso

et al. 2022

JPM

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“…For the molecular diagnosis of the disorder, various PCR methods have been demonstrated in order to detect CAG expansions ( 41 ). A recent study presented a novel triplet-primed PCR-based assay aiming to improve the test reliability and accuracy by detecting CAG expansions in samples with sequence variations in the HTT gene ( 42 ).…”

Section: Diagnosis and Genetic Counselingmentioning

confidence: 99%

Recent approaches on Huntington's disease (Review)

et al. 2022

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Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.

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“…HD is endemic to all populations, but its prevalence is higher among individuals of European ancestry, where it affects about 12 per 100,000 individuals [ 8 ]. Nowadays, HD patients can unequivocally be identified via genetic testing for this dominant trait [ 9 , 10 , 11 ]. Thus, individuals with a known family history and individuals carrying the mutation while still asymptomatic, can be easily identified before developing overt clinical features of the disease [ 12 ].…”

Section: Huntington Disease: An Opportunity To Seek Early Predictive ...mentioning

confidence: 99%

Current Diagnostic Methods and Non-Coding RNAs as Possible Biomarkers in Huntington’s Disease

Pellegrini

Bergonzoni

Perrone

et al. 2022

Genes

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Whether as a cause or a symptom, RNA transcription is recurrently altered in pathologic conditions. This is also true for non-coding RNAs, with regulatory functions in a variety of processes such as differentiation, cell identity and metabolism. In line with their increasingly recognized roles in cellular pathways, RNAs are also currently evaluated as possible disease biomarkers. They could be informative not only to follow disease progression and assess treatment efficacy in clinics, but also to aid in the development of new therapeutic approaches. This is especially important for neurological and genetic disorders, where the administration of appropriate treatment during the disease prodromal stage could significantly delay, if not halt, disease progression. In this review we focus on the current status of biomarkers in Huntington’s Disease (HD), a fatal hereditary and degenerative disease condition. First, we revise the sources and type of wet biomarkers currently in use. Then, we explore the feasibility of different RNA types (miRNA, ncRNA, circRNA) as possible biomarker candidates, discussing potential advantages, disadvantages, sources of origin and the ongoing investigations on this topic.

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A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT)

Cited by 12 publications

References 36 publications

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

Recent approaches on Huntington's disease (Review)

Current Diagnostic Methods and Non-Coding RNAs as Possible Biomarkers in Huntington’s Disease

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